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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cubuk c. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cubuk c. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Among authors: cubuk c. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk. Cubuk C, et al. Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230640 Free PMC article.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cubuk c. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
Axl and MerTK regulate synovial inflammation and are modulated by IL-6 inhibition in rheumatoid arthritis.
Nerviani A, Boutet MA, Ghirardi GM, Goldmann K, Sciacca E, Rivellese F, Pontarini E, Prediletto E, Abatecola F, Caliste M, Pagani S, Mauro D, Bellan M, Cubuk C, Lau R, Church SE, Hudson BM, Humby F, Bombardieri M, Lewis MJ, Pitzalis C. Nerviani A, et al. Among authors: cubuk c. Nat Commun. 2024 Mar 16;15(1):2398. doi: 10.1038/s41467-024-46564-6. Nat Commun. 2024. PMID: 38493215 Free PMC article.
Stratification of biological therapies by pathobiology in biologic-naive patients with rheumatoid arthritis (STRAP and STRAP-EU): two parallel, open-label, biopsy-driven, randomised trials.
Rivellese F, Nerviani A, Giorli G, Warren L, Jaworska E, Bombardieri M, Lewis MJ, Humby F, Pratt AG, Filer A, Gendi N, Cauli A, Choy E, McInnes I, Durez P, Edwards CJ, Buch MH, Gremese E, Taylor PC, Ng N, Cañete JD, Raizada S, McKay ND, Jadon D, Sainaghi PP, Stratton R, Ehrenstein MR, Ho P, Pereira JP, Dasgupta B, Gorman C, Galloway J, Chinoy H, van der Heijde D, Sasieni P, Barton A, Pitzalis C; STRAP collaborative group. Rivellese F, et al. Lancet Rheumatol. 2023 Nov;5(11):e648-e659. doi: 10.1016/S2665-9913(23)00241-2. Lancet Rheumatol. 2023. PMID: 38251532 Free article. Clinical Trial.
Defective extracellular matrix remodeling in brown adipose tissue is associated with fibro-inflammation and reduced diet-induced thermogenesis.
Pellegrinelli V, Figueroa-Juárez E, Samuelson I, U-Din M, Rodriguez-Fdez S, Virtue S, Leggat J, Çubuk C, Peirce VJ, Niemi T, Campbell M, Rodriguez-Cuenca S, Blázquez JD, Carobbio S, Virtanen KA, Vidal-Puig A. Pellegrinelli V, et al. Among authors: cubuk c. Cell Rep. 2023 Jun 27;42(6):112640. doi: 10.1016/j.celrep.2023.112640. Epub 2023 Jun 13. Cell Rep. 2023. PMID: 37318951 Free article.
38 results